Placenta Safe™ Gene Complete

The test is designed to screen fetuses for 44 autosomal dominant and some de novo arising monogenic (single-gene) diseases, as well as 5 recessively inherited genetic diseases. The test is particularly relevant for families with a history of inherited diseases, and for older couples.

The following monogenic diseases are screened: Achondroplasia (gene FGFR3); Hypochondroplasia (genes FGFR3, FGFR2); Achondrogenesis, type II (gene COL2A1); CATSHL syndrome: camptodactyly, tall stature, congenital scoliosis, deafness (gene FGFR3); LEOPARD syndrome, type I: lentigines, congenital heart conduction defects, hypertelorism, pulmonary stenosis, congenital genital anomalies, growth retardation, neurosensory deafness (gene PTPN11); Noonan syndrome: types I, IV, V, VIII and Noonan-like syndromes (genes: PTPN11, SOS1, RAF1, BRAF, CBL, KRAS, MAP2, MAP2K2, NRAS, RIT1, SHOC2); Juvenile myelomonocytic leukemia (genes PTPN11, CBL); Cardiofaciocutaneous syndrome: types I, III, VI (genes: BRAF, MAP2K1, MAP2K2); Rett syndrome (gene MECP2); Alagille syndrome (gene JAG1); CHARGE syndrome: coloboma, heart defects, choanal atresia, growth and/or developmental delay, genital hypoplasia, ear anomalies (gene CHD7); Cornelia de Lange syndrome, types V and I (genes HDAC8 and NIPBL); Sotos syndrome, type I (gene NSD1); Bohring-Opitz syndrome (gene ASXL1); Schinzel-Giedion syndrome (gene SETBP1); Antley-Bixler syndrome, type II (gene FGFR2); Apert syndrome (gene FGFR2); Jackson-Weiss syndrome (gene FGFR2); Pfeiffer syndrome: types I, II and III (gene FGFR2); Muenke syndrome: coronal craniosynostosis (gene FGFR3); Thanatophoric dysplasia: types I and II (gene FGFR3); Ehlers-Danlos syndrome (genes COL1A1 and COL1A2); Crouzon syndrome with acanthosis nigricans (gene FGFR3); Osteogenesis imperfecta: types I, II, III and IV (genes COL1A1 and COL1A2).

Screening is conducted for the following recessively inherited genetic diseases: cystic fibrosis (gene CFTR), beta thalassemia (HBB), sickle cell anemia (HBB), type 1A deafness (CX26 (GJB2)) and type 1B deafness (gene CX30 (GJB6)).

For testing recessive diseases, a DNA sample from the fetus's father is also taken from the inner cheek or venous blood.

Recommendation for when to conduct the test: Singleton and twin - from the 10th week of pregnancy.

Sample: blood.

Time to completion after reaching the laboratory: 10 - 20 business days.